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Links from MedGen

Items: 1 to 100 of 1044

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH2
Deletion
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(P1673A)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(M1959I)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(K1725R)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(P709L)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(G1161R)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(R1786Q)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(R665C)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Indel
(intron variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Deletion
(intron variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(P1391T)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(D1511H)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(W865L)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(K1082E)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(I531V)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(V2067A)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(K2133del)
Microsatellite
(inframe_deletion)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(L1837F)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(S2162F)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(A1416G)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(L1678F)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Deletion
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(E1375K)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(P2455L)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(K1353R)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(M1605T)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(G703V)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(P1539T)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Deletion
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(D377V)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(E1613D)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(I1203V)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(Q921R)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(E1586D)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Deletion
(intron variant)
Hajdu-Cheney syndrome
GBenign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(N680D)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(R1801S)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(G2446E)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(N1541K)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(I1688V)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(E2344K)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(E723K)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(S1225P)
Single nucleotide variant
(missense variant +1 more)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(N627S)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(H1359R)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(E1148K)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(S1274G)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(S2434Y)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(T2262S)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(D2152G)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(D647N)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(L1012M)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(D1644V)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Deletion
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(L1740F)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(W1463L)
Indel
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(T2440A)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(D1474Y)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(G748D)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(D813E)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(N1857H)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
(C547Y)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(R1604fs)
Microsatellite
(frameshift variant)
Hajdu-Cheney syndrome
GPathogenic
NOTCH2
(I2058T)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(S2129del)
Microsatellite
(inframe_deletion)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(intron variant)
Hajdu-Cheney syndrome
GLikely benign
NOTCH2
(R1787W)
Single nucleotide variant
(missense variant)
Hajdu-Cheney syndrome
GUncertain significance
NOTCH2
Single nucleotide variant
(synonymous variant)
Hajdu-Cheney syndrome
GLikely benign
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